Property Summary

NCBI Gene PubMed Count 23
PubMed Score 30.62
PubTator Score 21.63

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (2)

Disease Target Count P-value
ovarian cancer 8491 6.1e-07
osteosarcoma 7933 1.0e-04
lung cancer 4473 1.3e-04
subependymal giant cell astrocytoma 2287 4.9e-02
Disease Target Count Z-score Confidence
Nonsyndromic deafness 121 3.969 2.0

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma -1.151 1.0e-04
lung cancer 1.800 1.3e-04
subependymal giant cell astrocytoma 1.002 4.9e-02
ovarian cancer 1.300 6.1e-07

Protein-protein Interaction (3)

Gene RIF (14)

PMID Text
24916378 Loss of TFB1M results in mitochondrial dysfunction that leads to impaired insulin secretion and diabetes.
21195351 Deficiency in TFB1M and impaired mitochondrial function contribute to the pathogenesis of type 2 diabetes.
20877624 Observational study of gene-disease association. (HuGE Navigator)
19681768 The mRNA levels of TFB1M and TFB2M are influenced by endurance training
19417006 rRNA methyltransferase activity is necessary for induction of mitochondrial biogenesis by TFB1M, but not TFB2M.
19096125 determined the variation in the TFAM, TFB1M, and TFB2M genes in cardiac hypertrophy
19096125 Observational study of gene-disease association. (HuGE Navigator)
18980857 This study suggested that DNA variants in TFB1M did not contribute to the risk for parkinson disease.
18980857 Observational study of gene-disease association. (HuGE Navigator)
17557812 Distinct, but possibly coordinated functions of mtTFB1 and mtTFB2 in mitochondrial gene expression and biogenesis.
15110318 TFB1M is a nuclear-encoded modifier gene for phenotypic expression of the deafness-associated homoplasmic A1555G mutation in the mitochondrial 12S rRNA gene.
12897151 TFB1 interacts with the C-terminal activation region of h-mtTFA and stimulates transcription independently of its RNA methyltransferase activity
12496758 Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop
12068295 This transcription factor activates transcription of human mitochondrial DNA.

AA Sequence

MAASGKLSTCRLPPLPTIREIIKLLRLQAAKQLSQNFLLDLRLTDKIVRKAGNLTNAYVYEVGPGPGGIT      1 - 70
RSILNADVAELLVVEKDTRFIPGLQMLSDAAPGKLRIVHGDVLTFKVEKAFSESLKRPWEDDPPNVHIIG     71 - 140
NLPFSVSTPLIIKWLENISCRDGPFVYGRTQMTLTFQKEVAERLAANTGSKQRSRLSVMAQYLCNVRHIF    141 - 210
TIPGQAFVPKPEVDVGVVHFTPLIQPKIEQPFKLVEKVVQNVFQFRRKYCHRGLRMLFPEAQRLESTGRL    211 - 280
LELADIDPTLRPRQLSISHFKSLCDVYRKMCDEDPQLFAYNFREELKRRKSKNEEKEEDDAENYRL        281 - 346
//

Text Mined References (26)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24916378 2014 Loss of TFB1M results in mitochondrial dysfunction that leads to impaired insulin secretion and diabetes.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
21269460 2011 Initial characterization of the human central proteome.
21195351 2011 A common variant in TFB1M is associated with reduced insulin secretion and increased future risk of type 2 diabetes.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20843780 2011 Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
19681768 2010 Training response of mitochondrial transcription factors in human skeletal muscle.
19417006 2009 Elucidation of separate, but collaborative functions of the rRNA methyltransferase-related human mitochondrial transcription factors B1 and B2 in mitochondrial biogenesis reveals new insight into maternally inherited deafness.
19096125 2008 Mitochondrial transcription factors TFA, TFB1 and TFB2: a search for DNA variants/haplotypes and the risk of cardiac hypertrophy.
18980857 2009 Mutational screening of the mitochondrial transcription factors B1 and B2 (TFB1M and TFB2M) in Parkinson's disease.
18063578 2008 The layered structure of human mitochondrial DNA nucleoids.
17557812 2007 Relative abundance of the human mitochondrial transcription system and distinct roles for h-mtTFB1 and h-mtTFB2 in mitochondrial biogenesis and gene expression.
15684387 2005 Control of mitochondrial transcription specificity factors (TFB1M and TFB2M) by nuclear respiratory factors (NRF-1 and NRF-2) and PGC-1 family coactivators.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15110318 2004 Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12897151 2003 Human mitochondrial transcription factor B1 interacts with the C-terminal activation region of h-mtTFA and stimulates transcription independently of its RNA methyltransferase activity.
12532263 2003 Characterization of the mouse genes for mitochondrial transcription factors B1 and B2.
12496758 2003 Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12068295 2002 Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA.
11809803 2002 A human mitochondrial transcription factor is related to RNA adenine methyltransferases and binds S-adenosylmethionine.
10810093 2000 Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.